JAZF1 (JAZF zinc finger 1)

2009-04-01   Hui Li  , Jeffrey Sklar  

University of Virginia Medical School, Charlottesville, VA 22908, USA (HL), Department of Pathology, Yale University, New haven, CT, USA (JS)

Identity

HGNC
JAZF1
LOCATION
7p15.2
IMAGE
Atlas Image
LEGEND
Metaphase FISH using as probe YAC908B12, which encompasses the entire JAZF1 at 7p15.2.
LOCUSID
221895
ALIAS
TIP27,ZNF802
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

5 exons; spans 350kb.

Transcription

Major transcript: 2,980bp; coding sequence: 52-783.

Proteins

Description

243 amino acids.

Expression

Expressed in all the tissues tested with variable level. The tissues or organs that express JAZF1 include cerebellum, lung, thymus, liver, kidney, stomach/esophagus, skeleton muscle, skin and eye.

Localisation

Mostly nucleus.

Function

JAZF1 has three C2H2-type zinc fingers. It is mostly detected within the nucleus, with lesser amounts found in the cytoplasm. JAZF1 copurifies with chromatin, and presumably has DNA-binding properties. It has been reported to interact with TAK1 and function as a transcriptional repressor of the TAK1 gene.
SNPs in intron 1 of JAZF1 has been reported to be associated with type 2 diabetes and body height.
SNPs in intron 2 of JAZF1 have been reported to be associate with reduced prevalence of prostate cancer. Chimeric JAZF1-JJAZ1 protein (amino acid sequence of the first three exons of JAZF1 joined to sequence of the last 15 exons of JJAZ1) resulting from trans-splicing of precursor mRNAs and identical to a product generated from the JAZF1-JJAZ1 gene fusion in endometrial tumors has been found in normal endometrium.

Homology

Unkown.

Mutations

Somatic

JAZF1 has been identified at the breakpoints of a recurrent chromosomal translocation, the t(7;17)(p15;q21), in endometrial stromal tumors (benign nodules and sarcomas). The translocation leads to a JAZF1-JJAZ1 fusion gene. This gene fusion is detected in about 50% of endometrial stromal sarcomas and most endometrial stromal nodules.
Another common chromosomal translocation in endometrial stroma sarcomas, the t(6;7)(p21;p15), results in a JAZF1-PHF1 fusion. About 25-30% of endometrial stromal sarcomas are reported to contain this fusion. The sites of fusion within JAZF1 RNA to JJAZ1 and PHF1 RNA sequence are the same.
Both JJAZ1(also called SUZ12) and PHF1 belong to the Polycomb group (PcG) gene family.

Implicated in

Entity name
t(7;17)(p15;q21) / endometrial stromal nodule and endometrial sarcoma
Disease
Endometrial stroma nodule and sarcoma.
Cytogenetics
t(7;17)(p15;q21)
Hybrid gene
JAZF1-JJAZ1
Fusion protein
JAZF1-JJAZ1
Oncogenesis
The fusion protein protects cells from hypoxia-induced apoptosis, and also promotes proliferation when the wild-type allele of JJAZ1 is silenced (as it is in endometrial stromal sarcomas carrying the t(7;17)(p15;q21)).
Entity name
t(6;7)(p21;p15)/ endometrial stroma sarcoma
Disease
Endometrial stroma sarcoma.
Cytogenetics
t(6;7)(p21;p15)
Hybrid gene
JAZF1-PHF1
Fusion protein
JAZF1-PHF1
Oncogenesis
The function of the JAZF1-PHF1 fusion is not currently known.
Entity name
Prostate carcinoma
Oncogenesis
A SNIP in intron 2 of JAZF1 is associated with a somewhat decreased risk of prostate cancer, especially cancers that have been classified as being less aggressive. The mechanism by which polymorphisms alter the susceptibility toward prostate cancer is not currently known.

Breakpoints

Atlas Image

Article Bibliography

Pubmed IDLast YearTitleAuthors
186960452008A genetic link between type 2 diabetes and prostate cancer.Frayling TM et al
189528252009Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.Johansson A et al
113716472001Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.Koontz JI et al
180774302007Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival.Li H et al
187724392008A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells.Li H et al
163972222006Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.Micci F et al
171979202007Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms.Nucci MR et al
182640962008Multiple loci identified in a genome-wide association study of prostate cancer.Thomas G et al
193184322009Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.Waters KM et al
183729032008Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.Zeggini E et al

Other Information

Locus ID:

NCBI: 221895
MIM: 606246
HGNC: 28917
Ensembl: ENSG00000153814

Variants:

dbSNP: 221895
ClinVar: 221895
TCGA: ENSG00000153814
COSMIC: JAZF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153814ENST00000283928Q86VZ6
ENSG00000153814ENST00000427814H0Y403
ENSG00000153814ENST00000430432C9JWY1
ENSG00000153814ENST00000447620C9JGY8
ENSG00000153814ENST00000452993F8WD35
ENSG00000153814ENST00000454041F8WCD3
ENSG00000153814ENST00000649905A0A3B3ISK8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
361661962023JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.0
361661962023JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.0
353221242022Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in β(0)-thalassemia/HbE.3
356493532022JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.6
358462882022Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects.1
353221242022Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in β(0)-thalassemia/HbE.3
356493532022JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.6
358462882022Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects.1
337222422021Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy.4
349289642021RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.3
337222422021Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy.4
349289642021RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.3
326402162020The Diabetes Gene JAZF1 Is Essential for the Homeostatic Control of Ribosome Biogenesis and Function in Metabolic Stress.23
328568732020TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values.1
330087712020The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.0

Citation

Hui Li ; Jeffrey Sklar

JAZF1 (JAZF zinc finger 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/gene/41036/jazf1id41036ch7p15